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Variant : CV16381 (NM_025114.3(CEP290):c.613C>T (p.Arg205Ter)) Homo sapiens

Symbol: CV16381
Name: NM_025114.3(CEP290):c.613C>T (p.Arg205Ter)
Condition: Meckel syndrome type 4 [RCV000001407]
Clinical Significance: pathogenic
Last Evaluated: 11/28/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CEP290  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: stop-gain|nonsense
Evidence: literature only
HGVS Name(s): NM_025114.3:c.613C>T
NG_008417.1:g.16893C>T
NC_000012.12:g.88130324G>A
NC_000012.11:g.88524101G>A
NP_079390.3:p.Arg205Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381288,130,324 - 88,130,324CLINVAR
GRCh371288,524,101 - 88,524,101CLINVAR
Cytogenetic Map1212q21.32CLINVAR
Trait Synonyms: MECKEL-GRUBER SYNDROME, TYPE 4
Age Of Onset: antenatal|neonatal/infancy
Prevalence: 1-9 / 100 000|<1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8595382
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.